Postdoctoral Researcher - hEDS*Omics Study
Core
Develop and apply AI-based pipelines to identify undiagnosed or misdiagnosed hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorder (HSD) cases using clinical notes, phenotypes, and omics data.
Role type
Postdoctoral Researcher (AI/ML in Genomic Medicine)
Builds
AI-based case-finding pipelines for rare disease diagnosis
Domain
Genomic Medicine / Rare Disease Diagnosis / Clinical AI
Deliverable
production ML models
Required skills
Python, R, Large Language Models (LLMs), Natural Language Processing (NLP), Medical Text Mining, ICD codes, Human Phenotype Ontology (HPO), Omics data analysis, Scientific writing
Preferred skills
Retrieval-augmented generation (RAG), Agentic AI workflows, Prompt engineering, Electronic Health Records (EHR) modeling (OMOP/FHIR), Chart review validation, Hugging Face, LangChain, LlamaIndex, spaCy
Responsibilities
Develop and evaluate AI pipelines for hEDS/HSD case identification; Extract and normalize clinical phenotypes from unstructured medical records; Compare AI-generated cases against known diagnoses and expert assessments; Support validation studies for AI sensitivity and specificity; Prepare reproducible scripts, technical reports, and manuscripts.
Seniority
Postdoctoral Researcher
